Here some suggested organisations that offer expert advice on SN.
Support thread for Chromosomal/Genetic testing and diagnoses(501 Posts)
My daughter, 15 months, is currently tested for genetic abnormalities, because she is not gaining weight (failure to thrive). It will be a few months before we get the initial results back but my understanding is that this might just be the first set of test and the we might be in for assessment over the next several years. Is anybody else interested in a support thread for those waiting for results, those who have gotten them back and are adjusting to the findings and those who are willing to share their stories and knowledge?!
Yes please!! My DS is 18m, paed referred him for the first round of genetic tests at 15m, which came back (after 3 weeks) fine. We then saw the geneticist up at guy's just before Christmas, who suspects he has a chromosomal abnormality. He has hypotonia, hypermobility, global developmental delay, and likely on the autistic spectrum. She also noticed lots of other things - small for age, largish head, epicanthal folds,slightly odd hands & feet & skull (there were lots of long words to describe these - but you get the general idea!!)
Anyhow, she said it is rather like looking for a needle in a haystack, and she needs more "clues" as to where to look. She is now doing some metabolic tests, and will see him in a few months to see if his development offers any clues.
So a support thread would be great, as i think this will be ongoing for some time, and it will be good to chat to others in a similar situation. We are getting lots of stuff for the autistic side of things ATM (just started the Earlybird course, plus being sent on loads of other courses) but the genetic testing could raise other issues along the way as well.
Sorry, hope i haven't rambled on too much it's just everything has been getting on top of me the past few days and it's nice to know that there's people out there who understand!
Hi - count me in too! For those of you who don't know our story I'll try to be brief. DS1 2yo is undergoing genetic tests too - results due back any day for first set. He has GDD, hypotonia, microcephaly, wide-spaced teeth, some facial dimorphism (sp).
We first noticed problems at 6 months, after GP referral we were seen at the child development unit at 12 months and the tests began - MRI, fragile x, muscular dystrophy, EEG, full chromosomal check (cant remember the proper name) and other various all clear! So was referred to geneticist who said that he was sure it was a genetic condition and would start microdeletion tests. Also seen by neurologist who suggested a rare genetic condition as he had the look of this, geneticist confirmed this was a definite consideration and after much research we too feel it is quite likely. In the meantime ds is having regular physio ot and slt. Sometimes we wonder if we are enough to help him and what else we could be doing!
It's very helpful to know there are others out there who understand! Thank you for starting this!
im in ds had the first set of stuff when was 2 years old we had microarrray done in September to look at chromsomes a sthere sure all his indivual problems tie up bit tie up to what were waiting for should be March hopefully
ds hashypermoblity , low muscle tone ,global delay ,verbal oral dyspraxia ,Large head with very prominet forheard.Is small with legs being short so out of prportion.Ds is 5.5 so bit older than your dc
1980sport-your ds sounds familiar-what are the professionals testing for? hope you dont mind me asking. my ds has Angelman Syndrome
Hi monstermansmum - they are testing for angelman. It's nice to have you
We never got a diagnosis for our 2 DS ( Tom 17/9/94-10.12.2004 and Harry 10.8.98-17.12.10).
However both boys have had lots of tests and our paed thinks he has identified a new form of Ponto cerebella hypoplasia and they had PMs done on the brains, so maybe in the future they will know for sure.
We gave up on finding a diagnosis and just dealt with the symptoms.
1980 you can find me on facebook if you want? There is a huge international online AS family-all there to help and support in any way. (Rachel Martin-pic of my son and his cousin) Nice to meet you too! I am a trustee of ASSERT-the uk charity for Angelman Syndrome-tel number 0300 999 0102. xx
Oh, great that there is interest! For me it is/was very hard to get used to the idea that DD might have SN. It will be so helpful for me to see how others cope with all the uncertainty. DH has very different needs and refuses to do any research before a diagnosis is made. So it will be great to hang out here and exchange how we are.
We are lucky in that DD has no developmental delays (yet?) and is rarely sick. She isn't walking yet, but that's still considered withing the normal range at her age.
She is tiny, though, and has subtle dysmorphic features, the most prominent are her ears, which stick out. She my little Jota :-)
The geneticist does not think that she has a known syndrome and we are waiting for the micro-array tests. She suspects a rare genetic condition which might or might not be detected with the micro-array.
While it might be a good sign that we didn't
find anything unusual, the original suspicion was a complete shock for us.
One of the things I am trying to do it to
learn about chromosomes and genes and deletions etc. My understanding is that since they do not expect a syndrome, they cannot check a specific gene, but look for delections or duplications of large gene sequences. Do any of you have good webpages, on some basic genetics?
only1lucylocket - I am so sorry for your loss, one of them so recent. I can't imagine how hart this must have been for you right from the beginning. I guess you are in a
very different situation than those of us who wait for the results and it will be good to have your wisdom here.
This is one the things I am struggeling with:
if there is something you can do to help the heath of your children (e.g. metabolic consequences or disorders) then I certainly would want to know. But if there is nothing that can be done, than maybe I would prefer not to know and focus on the SN needs rather than the diagnosis. Does this make sense?
Hi glimmer I've found unique and their little yellow book very helpful! The bit you mentioned about looking for deletions and duplications was also how the tests were described to us too!
Monstermansmum - I'll definitely look for you on facebook
Hi, just wanted to join the thread... Am also a member of unique as ds1 has a chromosomal imbalance which I carry in balanced form. He has GDD hypotonia and autism. We know the locations of the duplication and deletion but that's all as it isn't a known syndrome. We are trying to focus on the symptoms and are doing ABA, biomed, music therapy, ot, speech.
They can do a miccroarray which is where they take each chromsome and break it's in to thousands of bits it is currently the best test available .There looking for a deletion or a translocation ( where one part if a chromsome has moved slightly ) so it could be line 17.346.3 has moved and is found where 17.346.5 should be
if they find any changes they will then test both parents as sometimes it can just be a family chromsome difference and the chances are if one of you has the gene it is not responsiable for the issues.be what they call a natrual mutation
But Genetics is a fast moving science and while now they might not find anything more things are coming to light and could few years further down the line find out more as scienctist do specialised research on indiviusal chromsomes
Ds3 does walk but not very far or fast he needs wheelchair and splints
But it was the size of ds head and features that convinced genetics that it's chromsome when taken into account everything else.ds is only size of a 3 year old
I'm up for a genetics/chromosome thread. DS is 14-years-old and remains undiagnosed. Angelman-like presentation in gait, movement, learning disabilities but has not tested positively for anything. A continual frustration and isolating
This is just the kind of thread I need.
DD is 8 yrs now and we still have no diagnosis. She's had so many tests I've forgotten what half of them were for.
She has microephaly, unusually facial features, Global delayed developement and a host of other probs that I'd be here all day typing.
Was thought she might have downs when she was born and then williams syndrome but both came back clear.
Her genetisist says its def genetic but that they are at a loss as to what it is.
Everytime they discover a new test she's one of the 1st to have it. The only thing they've been able to tell us for def, is that its not something that she's got from myself or her dad. Which is something I suppose.
We have been given an un-official diagnosis of autism but the professionals are reluctant to make it offical because they dont want to label her.
Its very frustrating, so I'm very glad I found this thread
NicLin, my DS also has an unofficial - or contested - diagnosis of autism. I think one of the problems is that many children with severe learning disabilities present with lots of autistic features, and classic autism is more likely to be diagnosed. If your child has 'dysmorphic' features, as your child and mine does, then they assume a genetic/chromosomal basis for the disability, not ASD
some people are pofaced including proffesionals when ask why i want to know But its becuase of dealing with proffesionals it be so much easier to say ds has this ..... rather than a collection of issues or dx .Want to know if its one thing or even two or whethers he been just so feckinh unlucky and the 6 dx he has are not related to eahc other in any shape or form
Donkeyderby, Thats the prob we are having at the moment.
Everyone is confused by her. No-one knows how much of her problems are down to the mysterious genetic disorder she has. And if she is autistic, how many of her behaviours & other problems are down to that.
The problem is trying to separate the genetic probs from the autism (if she is) which is near impossible.
So many disorders share similar traits. I drove myself crazy, when we were told about the different syndromes she was being tested for, looking them up on the internet. Everytime I thought this is it, she fits in with this 1 & the tests always come back neg. The states I'd get myself into, even I'll admit they were a tad over the top
I've stopped myself looking now, though I'm still tempted to google her symptoms sometimes
The only thing that hasn't been discounted is Wolfman syndrome but the genetisist said that its only a tiny slice of the pie and only covers the excess hair on her body. But they havn't tested for it, not sure why not.
Think we all get to the point where any kind of diagnosis will do even if its only partial.
Not knowing what to expect is hard for everyone
Hi Guys - I feel very isolated too with no dx. I would love to have some friends to meet up with with children with SN. All my friends all have NT toddlers who are doing so many new things every day and although it's lovely to see them I am finding it increasingly difficult as the developmental gap continues to widen! I tried Contact a Family and although they were very helpful with information they wouldn't put me in touch with any families until we had an official dx. When we go to toddler groups, it's now very obvious that something is 'wrong' and although I know I shouldn't care that people are looking and talking I do and would like to have an easy explanation for the questions we are now facing. I hate the thought that other mothers are saying - does she not know her ds is very behind etc. Then I get annoyed with myself for even caring what they are thinking and just focus on ds. So at the moment, we go somewhere every day but mostly somewhere quiet by ourselves, because it's just easier really.
we're in a slightly different position with dd3 in that she has a dx but we still don't know exactly where the problem lies. She's had the comparative genome hybridisation test that came back ok after months of waiting, next on my to do list is to ask about micro array that goingroundthebend recommended a while back.
I do find getting help easier since dx, it's definite, there's no umming and ahhing that goes on normally, still a struggle to get services but noone can argue that there's nothing wrong any more.
hmm Bigcar ds3 does have dx s but becuase i looked at charitys and or forums related to that one paticular Dx i find that have nothing really in common as they cant relate to any of the other problems.
Infact the only thig we are sur eof proffesionals to is that ds is not Autistic.
everyone does agree theres something wrong but what
I suppose that's the good thing about dd3s syndrome, symptoms vary hugely so there's usually someone that's been there before on its support group iyswim. I've also joined a couple of support groups for specific issues, mainly for info, but find like you, there's too much else going on with dd3 to feel at home.
the same with dd3, no asd involved although there are quite a few in the support who do have it.
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